Immune response and gene polymorphism profiles in Crohn's disease and ulcerative colitis.
BACKGROUND
Polymorphisms in genes linked to the innate and adaptive immune response may be involved in inflammatory bowel disease pathogenesis. Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population.


METHODS
We studied 43 patients with CD, 42 with UC, and 541 blood donors. Polymorphisms were evaluated by PCR, PCR-CTPP, or PCR-RFLP. Data were analyzed in multivariate models adjusting for confounding factors.


RESULTS
IL1RN VNTR (P = 0.00, odds ratio [OR] = 2.43, 95% confidence interval [CI] = 1.50-3.90), as well as TNFA-307 polymorphic allele (P = 0.05, OR = 1.70, 95% CI = 1.00-2.94) were associated with UC. Both NOD2 mutations (G908R, P = 0.02, OR = 6.83, 95% CI = 1.62-25.45, and L1007fsinsC, P = 0.00, OR = 20.00, 95% CI = 3.21-124.69) were associated with CD.


CONCLUSIONS
Our analyses showed positive associations between proinflammatory polymorphisms at IL1RN and TNFA-307 loci and UC, as well as polymorphisms in the NOD2 gene and CD. These results highlight the importance of different genetic profiles associated with CD and UC.
Queiroz
Dulciene Maria Magalhães
DM
Laboratory of Research in Bacteriology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. dqueiroz@medicina.ufmg.br
Oliveira
Adriana Gonçalves
AG
Saraiva
Ivan Euclides Borges
IE
Rocha
Gifone Aguiar
GA
Rocha
Andreia Maria Camargos
AM
das Graças Pimenta Sanna
Maria
M
Guerra
Juliana Becattini
JB
Dani
Renato
R
Ferrari
Maria de Lourdes Abreu
Mde L
Castro
Lúcia Porto Fonseca
LP
D000328:Adult; D000483:Alleles; D001938:Brazil / Q000453:epidemiology; D003093:Colitis, Ulcerative / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007111:Immunity, Cellular / Q000276:immunology*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics / Q000378:metabolism; D015810:Linkage Disequilibrium; D008297:Male; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015995:Prevalence; D012189:Retrospective Studies
C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D004247:DNA